MCID: DYS098
MIFTS: 41

Dystonia-11, Myoclonic malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dystonia-11, Myoclonic

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Aliases & Descriptions for Dystonia-11, Myoclonic:

Name: Dystonia-11, Myoclonic 49
Myoclonic Dystonia 21 45 22 23 47 67 24 65
Hereditary Essential Myoclonus 21 45 22 23
Myoclonus-Dystonia 21 45 22 23
Dyt11 45 22 23 67
Myoclonus-Dystonia Syndrome 45 23 67
Dystonia 11 21 45 22
 
Alcohol-Responsive Dystonia 23 67
Dystonia, Myoclonic 11 22
Myoclonus, Hereditary Essential 45
Dystonia, Alcohol Responsive 45
Dystonia 11, Myoclonic 67
Dystonia-11 67

Characteristics:

HPO:

61
dystonia-11, myoclonic:
Onset and clinical course: incomplete penetrance, juvenile onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 159900
MedGen34 C1834570
UMLS65 C1834570

Summaries for Dystonia-11, Myoclonic

About this section
Genetics Home Reference:23 Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom.

MalaCards based summary: Dystonia-11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 26, myoclonic and dystonia 15, myoclonic, and has symptoms including muscular hypotonia, writer's cramp and tremor. An important gene associated with Dystonia-11, Myoclonic is SGCE (Sarcoglycan Epsilon). Affiliated tissues include brain, kidney and cerebellum, and related mouse phenotype muscle.

OMIM:49 Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal... (159900) more...

UniProtKB/Swiss-Prot:67 Dystonia 11, myoclonic: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.

GeneReviews summary for NBK1414

Related Diseases for Dystonia-11, Myoclonic

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Graphical network of diseases related to Dystonia-11, Myoclonic:



Diseases related to dystonia-11, myoclonic

Symptoms for Dystonia-11, Myoclonic

About this section

Symptoms by clinical synopsis from OMIM:

159900

Clinical features from OMIM:

159900

HPO human phenotypes related to Dystonia-11, Myoclonic:

(show all 9)
id Description Frequency HPO Source Accession
1 muscular hypotonia rare (5%) HP:0001252
2 writer's cramp HP:0002356
3 tremor HP:0001337
4 myoclonus HP:0001336
5 agoraphobia HP:0000756
6 anxiety HP:0000739
7 obsessive-compulsive behavior HP:0000722
8 depression HP:0000716
9 torticollis HP:0000473

UMLS symptoms related to Dystonia-11, Myoclonic:


tremor, torticollis, myoclonus

Drugs & Therapeutics for Dystonia-11, Myoclonic

About this section

Drugs for Dystonia-11, Myoclonic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineexperimentalPhase 4, Phase 368951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
2Peripheral Nervous System AgentsPhase 4, Phase 218510
3Neurotransmitter AgentsPhase 4, Phase 314795
4OnabotulinumtoxinAPhase 4, Phase 3588
5AbobotulinumtoxinAPhase 4, Phase 3588
6Neuromuscular AgentsPhase 4922
7IncobotulinumtoxinAPhase 4, Phase 3599
8Botulinum ToxinsPhase 4, Phase 3616
9Botulinum Toxins, Type APhase 4, Phase 3588
10Cholinergic AgentsPhase 4, Phase 33243
11
Zonisamideapproved, investigationalPhase 36568291-97-45734
Synonyms:
1,2-Benzisoxazole-3-methanesulfonamide
1,2-benzoxazol-3-ylmethanesulfonamide
1-(1,2-Benzoxazol-3-Yl)methanesulfonamide
1-(1,2-benzisoxazol-3-yl)methanesulfonamide
3-(Sulfamoylmethyl)-1,2-benzisoxazole
3-sulfamoylmethyl-1,2-benzisoxazole
68291-97-4
AC-1413
AC1L1L0Q
AC1Q55GQ
AD 810
AD-810
AD-810N
AKOS001312269
BIDD:GT0708
BIDD:PXR0183
BRD-K48300629-001-03-8
BRN 1077076
Benzo[D]isoxazol-3-yl-methanesulfonamide
Bio-0532
C022189
C07504
C8H8N2O3S
CHEBI:10127
CHEMBL750
CI 912
CI-912
CID5734
CPD000596519
D00538
DB00909
E-2090
Elan brand of zonisamide
Exceglan
 
Excegram
Excegran
Excegran (TN)
FT-0082702
HMS2089O07
HSDB 7293
I06-0495
LS-33637
MLS001195632
MLS001306491
MolPort-002-507-855
NCGC00159319-02
NCGC00159319-03
PD 110843
PD-110843
S1445_Selleck
SAM002548957
SMR000596519
SPR_2
STK711131
Tremode
Trerief
UNII-459384H98V
ZINC00004321
Zonegran
Zonegran, Zonisamide
Zonisamida
Zonisamida [Spanish]
Zonisamide
Zonisamide (JAN/USAN/INN)
Zonisamide (ZNS)
Zonisamide [USAN:BAN:INN:JAN]
Zonisamidum
Zonisamidum [Latin]
zonisamide
zonisamide monosodium
12
IronapprovedPhase 310217439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
13
DeferiproneapprovedPhase 35330652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1
14AnticonvulsantsPhase 3, Phase 22249
15AntioxidantsPhase 32442
16Protective AgentsPhase 35651
17Iron Chelating AgentsPhase 3178
18Pharmaceutical SolutionsPhase 37004
19Chelating AgentsPhase 3667
20
Pregabalinapproved, illicit, investigationalPhase 2340148553-50-85486971
Synonyms:
(3S)-3-(aminomethyl)-5-methylhexanoic acid
(R-)-3-isobutyl GABA
(S)-3-(Aminomethyl)-5-methylhexanoic acid
(S)-3-Isobutyl gaba
(S+)-3-isobutyl GABA
121GE001
148553-50-8
3-Isobutyl gaba
3-isobutyl GABA
AC-1158
AC1NUP03
AKOS005145504
C080245
C8H17NO2
CHEBI:236161
CHEMBL1059
CI 1008
CI-1008
CID5486971
 
D02716
DB00230
FT-0080911
HSDB 7530
LS-75191
Lyrica
Lyrica (TN)
MolPort-000-861-733
PD 144723
PD-144723
Pregabalin
Pregabalin (JAN/USAN/INN)
Pregabalin [USAN]
Pregablin
S-(+)-3-isobutylgaba
S1731_Selleck
SBB062901
TL8001062
TOS-BB-0910
UNII-55JG375S6M
21
DiphenhydramineapprovedPhase 221258-73-1, 147-24-03100
Synonyms:
147-24-0
147-24-0 (HYDROCHLORIDE)
2-(Benzhydryloxy)-N,N-dimethylethylamine
2-(Benzhydryloxy)-N,N-dimethylethylamine, hydrochloride
2-(Diphenylmethoxy)-N,N-dimethylethylamine
2-(diphenylmethoxy)-N,N-dimethylethanamine
2-Diphenylmethoxy-N,N-dimethylethylamine
2-[(diphenylmethyl)oxy]-N,N-dimethylethanamine
2-benzhydryloxy-N,N-dimethylethanamine
2-benzhydryloxyethyl-N,N-dimethylammonium
2-diphenylmethoxy-N,N-demthylethanamine
2PM
58-73-1
88637-37-0 (citrate (1:1))
AB00053460
AC-13704
AC1L1F65
AKOS003658554
Aleryl
Alledryl
Aller-Med
Allerdryl
Allergan
Allergan B
Allergeval
Allergical
Allergina
Allergival
Allergy
Allergy Relief
Allermax Caplets
Allernix
Amidryl
Antistominum
Antitussive
Antomin
Automin
BENADRYL HCl
BIDD:GT0152
BPBio1_000275
BRD-K47278471-003-05-7
BRN 1914136
BSPBio_000249
BSPBio_002219
Bagodryl
Banophen
Banophen Caplets
Baramine
Beldin
Belix
Ben-allergin
Bena
Benachlor
Benadrin
Benadryl
Benadryl (hydrochloride)
Benadryl Allergy
Benapon
Bendylate
Benhydramin
Benodin
Benodine
Benylan
Benylin
Benzantin
Benzantine
Benzhydramine
Benzhydraminum
Benzhydril
Benzhydroamina
Benzhydryl
Betramin
CAS-147-24-0
CCRIS 1959
CHEBI:127629
CHEBI:4636
CHEMBL657
CID3100
CPD-10890
Childrens Allergy Relief
Childrens Wal-dryl Allergy
Compoz
D00300
DB01075
DB06975
DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE
Dabylen
Debendrin
Dermistina
Dermodrin
Desentol
Diabenyl
Diabylen
Dibendrin
Dibenil
Dibondrin
Difedryl
Difenhidramina
Difenhidramina [INN-Spanish]
Difenhydramin
Difenhydramine
Difenidramina
Difenidramina [Italian]
Dihidral
Dimedrol
Dimedrol base
Dimedrolum
Dimedryl
Dimehydrinate
Dimethylamine benzhydryl ester
Diphamine
Diphantine
Diphen
Diphen Cough
Diphenhist
Diphenhist Captabs
 
Diphenhydramine
Diphenhydramine (JP15/INN)
Diphenhydramine Base
Diphenhydramine HCl
Diphenhydramine Hydrochloride
Diphenhydramine Salicylate
Diphenhydramine [INN:BAN:JAN]
Diphenhydraminum
Diphenhydraminum [INN-Latin]
Diphenylhydramin
Diphenylhydramine
DivK1c_000368
Dobacen
Dormarex 2
Dryistan
Drylistan
Dylamon
EINECS 200-396-7
Etanautine
FAR 90X2
Genahist
HMS2089E06
HSDB 3066
Help I Cant Sleep
Histaprin
Histaxin
Hyadrine
Hydramine
Hyrexin
I14-6749
IDI1_000368
Ibiodral
Insomnal
KBio1_000368
KBio2_001460
KBio2_004028
KBio2_006596
KBio3_001439
KBioGR_001099
KBioSS_001460
L000227
LS-68208
Lopac-D-3630
Lopac0_000377
MLS002222276
Medidryl
Mephadryl
MolPort-001-783-508
N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride
N-(2-(Diphenylmethoxy)ethyl)-N,N-dimethylamine
N-(Benzhydryloksy-etylo)dwumetyloamina
N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]
N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE
NCGC00015335-01
NCGC00015335-02
NCGC00015335-03
NCGC00015335-10
NCGC00024414-03
NCGC00024414-04
NCI60_002916
NCI60_022782
NINDS_000368
NSC665800
Nausen
Nervine Nighttime Sleep-Aid
Nightime Sleep Aid
North Antihistamine
Novamina
Nytol QuickCaps
Nytol Quickcaps
Nytol Quickgels
O-Benzhydryldimethylaminoethanol
O-benzhydryldimethylaminoethanol
Oprea1_254625
PM 255
Prestwick0_000065
Prestwick1_000065
Prestwick2_000065
Prestwick3_000065
Probedryl
Restamin
Restamin (TN)
Rigidil
S51
SMR001307259
SPBio_000961
SPBio_002170
STK103720
STOCK2S-94461
Siladryl
Silphen
Sleep-Eze D
Sleep-Eze D Extra Strength
Spectrum2_000961
Spectrum3_000400
Spectrum4_000520
Spectrum5_000915
Spectrum_000980
Syntedril
Syntodril
TL8003758
Twilite Caplets
UNII-8GTS82S83M
Unisom
Unisom Sleepgels Maximum Strength
Zzzquil
Zzzsleep
alpha-(2-Dimethylaminoethoxy)diphenylmethane
beta-Dimethylamino-aethyl-benzhydryl-aether
beta-Dimethylamino-aethyl-benzhydryl-aether [German]
beta-Dimethylaminoethanol diphenylmethyl ether
beta-Dimethylaminoethyl benzhydryl ether
beta-Dimethylaminoethylbenzhydrylether
beta-dimethylaminoethyl benzhydryl ether
diphenhydramine
nchembio747-comp18
β-dimethylaminoethyl benzhydryl ether
22
PromethazineapprovedPhase 221260-87-74927
Synonyms:
(2-Dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(Dimethylamino-2-propyl-10-phenothiazine hydrochloride
10-(2-(Dimethylamino)-2-methylethyl)phenothiazine
10-(2-(Dimethylamino)propyl)phenothiazine
10-(2-Dimethylaminopropyl)phenothiazine
10-[2-(Dimethylamino)propyl]phenothiazine
10-[2-(dimethylamino)Propyl]phenothiazine
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl- (9CI)
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl-, radical ion(1+)
3277 RP
3389 R.p.
38878-40-9
4-27-00-01253 (Beilstein Handbook Reference)
4182 R.p.
60-87-7
73745-50-3
A-91033
AB00053535
AC-15939
AC1L1J92
Antiallersin
Aprobit
Avomine
BPBio1_000744
BRN 0088554
BSPBio_000676
BSPBio_002777
C07404
CCRIS 7056
CHEBI:8461
CHEMBL643
CID4927
Camergan
D00494
DB01069
Dimapp
Dimethylamino-isopropyl-phenthiazin
Dimethylamino-isopropyl-phenthiazin [German]
Diphergan
Diprazin
Diprazine
Diprozin
DivK1c_000005
EINECS 200-489-2
Fargan
Fenazil
Fenetazina
Fenetazine
Genphen
HMS2089E08
HSDB 3173
Hiberna
Histargan
IDI1_000005
Iergigan
InChI=1/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3
Isophenergan
Isopromethazine
KBio1_000005
KBio2_001348
KBio2_003916
KBio2_006484
KBio3_001997
KBioGR_001697
KBioSS_001348
L000495
LS-264
Lercigan
Lergigan
Lilly 01516
Lilly 1516
Lopac0_000899
Metaryl
MolPort-001-783-684
N,N,alpha-Trimethyl-10H-phenothiazine-10-ethanamine
N,N,α-trimethyl-10H-phenothiazine-10-ethanamine
N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine hydrochloride
N-(2'-Dimethylamino-2'-methyl)ethylphenothiazine
N-(2'-dimethylamino-2'-Methyl)ethylphenothiazine
 
N-Dimethylamino-2-methylethyl thiodiphenylamine
NCGC00015817-10
NCGC00089735-02
NCGC00089735-03
NCI-C60673
NCI60_001878
NINDS_000005
NSC 30321
NSC30321
Oprea1_758749
PROMETHAZINE (SEE ALSO PROMETHAZINE HYDROCHLORIDE 58-33-3)
Pelpica
Phargan
Phenadoz
Phenargan
Phenergan
Phenerzine
Phenoject-50
Phensedyl
Pilothia
Pilpophen
Pipolphene
Prestwick0_000888
Prestwick1_000888
Prestwick2_000888
Prestwick3_000888
Pro-50
Proazaimine
Proazamine
Procit
Promacot
Promazinamide
Promergan
Promesan
Prometasin
Prometazin
Prometazina
Prometazina [INN-Spanish]
Prometazine
Prometh
Promethacon
Promethaine
Promethazin
Promethazine
Promethazine (JAN/INN)
Promethazine Hydrochloride
Promethazine [INN:BAN]
Promethazine hydrochloride
PromethazineHcl
Promethazinum
Promethazinum [INN-Latin]
Promethegan
Promethiazine
Promezathine
Prorex
Protazine
Prothazin
Prothazine
Provigan
Pyrethia
Pyrethiazine
RP 3277
Remsed
Romergan
Rumergan
SKF 1498
SPBio_000799
SPBio_002895
Sominex
Spectrum2_000840
Spectrum3_001019
Spectrum4_001149
Spectrum5_000977
Spectrum_000868
Tanidil
Thiergan
UNII-FF28EJQ494
Valergine
Vallergine
WLN: T C666 BN ISJ B1Y1&N1&1
WY 509
Zipan-25
promethazine
23Psychotropic DrugsPhase 25501
24Tranquilizing AgentsPhase 23597
25calcium channel blockersPhase 21743
26AnalgesicsPhase 29358
27Central Nervous System DepressantsPhase 210016
28Anti-Anxiety AgentsPhase 21529
29Calcium, DietaryPhase 24678
30
Flumazenilapproved2478755-81-43373
Synonyms:
4H-Imidazo(1,5-a)(1,4)benzodiazepine-3-carboxylic acid, 8-fluoro-5,6-dihydro-5-methyl-6-oxo-, ethyl ester
78755-81-4
8-Fluoro-5,6-dihydro-5-methyl-6-oxo-4H-imidazo[1,5-a][1,4]benzodiazepine-3-carboxylic acid ethyl ester
AC-6846
AC1L1FSE
AC1Q33UE
Anexate
BIDD:GT0766
BPBio1_001190
BRD-K98769987-001-01-3
BRN 4763661
Biomol-NT_000285
C07825
C15H14FN3O3
CHEBI:5103
CHEMBL407
CID3373
CPD000058450
D005442
D00697
DB01205
EU-0100506
Ethyl 8-fluoro-5,6-dihydro-5-methyl-6-oxo-4H-imidazo(1,5-a)(1,4)benzodiazepine-3-carboxylate
Ethyl 8-fluoro-5-methyl-5,6-dihydro-6-oxo-4H-imidazo(1,5-a)(1,4)benzodiazepine-3-carboxylate
Ethyl 8-fluoro-5-methyl-6-oxo-5,6-dihydro-4H-imidazo[1,5-a][1,4]benzodiazepine-3-carboxylate
F 6300
F6300_SIGMA
Flumazenil
Flumazenil (JAN/USP/INN)
Flumazenil [USAN:BAN:INN]
Flumazenilo
Flumazenilo [Spanish]
Flumazenilum
Flumazenilum [Latin]
Flumazepil
Flumazepil, Ro 15-1788, Anexate, Lanexat, Mazicon, Roma,Flumazenil
HMS2051D17
HMS2089B15
Hoffman La Roche Brand of Flumazenil
Hoffman-La Roche Brand of Flumazenil
I01-0379
 
LS-77778
Lanexat
Lopac-F-6300
Lopac0_000506
MLS000028850
MLS000759529
MLS001076354
Mazicon
MolPort-003-666-855
NCGC00015439-01
NCGC00015439-03
NCGC00015439-07
NCGC00025116-01
NCGC00025116-02
NCGC00025116-03
NCGC00025116-04
NCGC00025116-05
PDSP1_001778
PDSP2_001761
RO-151788
Ro 15 1788
Ro 15-1788
Ro 151788
Ro-15-1788
Ro-?15-1788
Ro15-1788
Roche Brand of Flumazenil
Romazicon
Romazicon (TN)
S1332_Selleck
SAM001246763
SBB063113
SMR000058450
TL8005362
Tocris-1328
UNII-40P7XK9392
UPCMLD-DP137
UPCMLD-DP137:001
ZINC00001464
[3H]Ro15-1788
ethyl 8-fluoro-5-methyl-6-oxo-4H-imidazo[1,5-a][1,4]benzodiazepine-3-carboxylate
flumazenil
nchembio747-comp37
31Dihydroxyphenylalanine123

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1OnabotulinumtoxinA in the Management of Psychogenic DystoniaRecruitingNCT02618889Phase 4
2Efficacy Trial of Zonisamide for Myoclonus DystoniaCompletedNCT01806805Phase 3
3Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated NeurodegenerationEnrolling by invitationNCT02174848Phase 3
4Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential TremorNot yet recruitingNCT02555982Phase 3
5Prospective, Randomized Controlled Trial on Perioperative Pregabalin to Reduce Late-onset CRPS After TKACompletedNCT00558753Phase 2
6Pilot Efficacy Study of T2000 in Myoclonus DystoniaTerminatedNCT00506012Phase 2
7Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor StudyCompletedNCT01495897
8Brain Changes in Patients With Focal Hand DystoniaCompletedNCT00306865
9Long-Term Motor Learning in Focal Hand DystoniaCompletedNCT00325091
10Studying Childhood-Onset HemidystoniaCompletedNCT01432899
11The Dystonia Coalition Natural History and Biospecimen Repository for Isolated DystoniasRecruitingNCT01373424
12Role of Neurotransmission and Functional CNS Networks in Spasmodic DysphoniaRecruitingNCT00713414
13Alteration of Deep Brain Stimulation Parameters for DystoniaRecruitingNCT00971854
14Effect of DBS on Quality of Life in Dyskinetic Cerebral PalsyRecruitingNCT02097693
15Deep Brain Stimulation Surgery for Movement DisordersRecruitingNCT01581580

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Genetic Tests for Dystonia-11, Myoclonic

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Genetic tests related to Dystonia-11, Myoclonic:

id Genetic test Affiliating Genes
1 Dystonia, Myoclonic22 DRD2
2 Myoclonus-Dystonia22 SGCE

Anatomical Context for Dystonia-11, Myoclonic

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MalaCards organs/tissues related to Dystonia-11, Myoclonic:

33
Brain, Kidney, Cerebellum, Breast, Prostate, Lung, Endothelial

Animal Models for Dystonia-11, Myoclonic or affiliated genes

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MGI Mouse Phenotypes related to Dystonia-11, Myoclonic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8DRD2, SGCE, TOR1A

Publications for Dystonia-11, Myoclonic

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Variations for Dystonia-11, Myoclonic

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UniProtKB/Swiss-Prot genetic disease variations for Dystonia-11, Myoclonic:

67 (show all 13)
id Symbol AA change Variation ID SNP ID
1SGCEp.Leu196ArgVAR_026750
2SGCEp.Thr36ArgVAR_066732
3SGCEp.His60ProVAR_066733
4SGCEp.His60ArgVAR_066734
5SGCEp.Met92ThrVAR_066735
6SGCEp.Trp100GlyVAR_066736
7SGCEp.Gly112ArgVAR_066737
8SGCEp.Tyr115CysVAR_066738
9SGCEp.Leu175SerVAR_066739
10SGCEp.Ser177CysVAR_066740
11SGCEp.Leu184ProVAR_066741
12SGCEp.Trp270ArgVAR_066742
13SGCEp.Cys271TyrVAR_066743

Clinvar genetic disease variations for Dystonia-11, Myoclonic:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_003919.2(SGCE): c.771_772delAT (p.Cys258Terfs)deletionPathogenicrs794727794GRCh37Chr 7, 94232655: 94232656
2NM_003919.2(SGCE): c.289C> T (p.Arg97Ter)single nucleotide variantPathogenicrs121908489GRCh37Chr 7, 94257615: 94257615
3NM_003919.2(SGCE): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs121908490GRCh37Chr 7, 94257600: 94257600
4SGCESGCE, 1-BP DEL, 565AdeletionPathogenic
5SGCESGCE, 97-BP DELdeletionPathogenic
6NM_003919.2(SGCE): c.835_839delACAAA (p.Thr279Alafs)deletionPathogenicrs863223283GRCh38Chr 7, 94600844: 94600848
7NM_003919.2(SGCE): c.587T> G (p.Leu196Arg)single nucleotide variantPathogenicrs121908491GRCh37Chr 7, 94248145: 94248145
8NM_003919.2(SGCE): c.884dupT (p.Leu295Phefs)duplicationPathogenicrs863223284GRCh37Chr 7, 94230111: 94230111
9SGCESGCE, 1-BP DEL, 974CdeletionPathogenic
10NM_003919.2(SGCE): c.1114C> T (p.Arg372Ter)single nucleotide variantPathogenicrs121908492GRCh37Chr 7, 94228226: 94228226
11NM_003919.2(SGCE): c.464_662del199deletionPathogenicGRCh38Chr 7, 94604254: 94619273
12SGCESGCE, 6,872-BP DEL, EX6DELdeletionPathogenic
13NM_003919.2(SGCE): c.619_620delAG (p.Arg207Glyfs)deletionPathogenicrs863223285GRCh38Chr 7, 94618800: 94618801

Expression for genes affiliated with Dystonia-11, Myoclonic

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Search GEO for disease gene expression data for Dystonia-11, Myoclonic.

Pathways for genes affiliated with Dystonia-11, Myoclonic

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GO Terms for genes affiliated with Dystonia-11, Myoclonic

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Cellular components related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.2SGCE, TOR1A
2dendriteGO:00304259.0DRD2, SGCE

Sources for Dystonia-11, Myoclonic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet